ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.3094C>T (p.Arg1032Cys)

gnomAD frequency: 0.00006  dbSNP: rs782546714
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000659661 SCV000781504 likely benign Connective tissue disorder 2016-11-01 criteria provided, single submitter clinical testing
Invitae RCV001066358 SCV001231365 likely benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2024-01-16 criteria provided, single submitter clinical testing
GeneDx RCV001584517 SCV001810843 uncertain significance not provided 2019-04-08 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Reported in ClinVar (ClinVar Variant ID# 547382; Landrum et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 30986657)

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